A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8907128



Internal ID13401192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73860026..73860049hg38UCSC Ensembl
Innerchr2:73860035..73860040hg38UCSC Ensembl
Outerchr2:73860012..73860063hg38UCSC Ensembl
chr2:74087153..74087176hg19UCSC Ensembl
Innerchr2:74087162..74087167hg19UCSC Ensembl
Outerchr2:74087139..74087190hg19UCSC Ensembl
chr2:73940661..73940684hg18UCSC Ensembl
Innerchr2:73940675..73940670hg18UCSC Ensembl
Outerchr2:73940647..73940698hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg383688
hg193688
hg183688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324638
Supporting Variants
SamplesNA18489
Known GenesSTAMBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8907128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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